Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Gabrg2tm1Spet
Name:	gamma-aminobutyric acid type A receptor, subunit gamma 2; targeted mutation 1, Steven Petrou
MGI ID:	MGI:3764923
Synonyms:	Gabrg2R43Q, Gabrg2tmSpet, gamma2(R43Q)
Gene:	Gabrg2  Location: Chr11:41801030-41891684 bp, - strand  Genetic Position: Chr11, 24.8 cM
Alliance:	Gabrg2tm1Spet page

Germline Transmission:	Earliest citation of germline transmission: J:127120
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted Mutations:    Insertion, Nucleotide substitutions   Mutation details: The coding region was replaced with a coding region containing substitution that results in an amino acid substution of a glutamine for an arginine at position 43 (R43Q), 4 aditional silent mutations (not identified) and a floxed neo cassette that was subsequently removed by cre-mediated recombination. Expression levels were confirmed to be normal by RT-PCR analysis on total brain extracts. Reduction in protein product was confirmed by wesrtern blot analysis on extracts from E16 forebrains. This allele was generated from Gabrg2tm2Spet. (J:127120)

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Gabrg2 Mutation:	41 strains or lines available

Original:	J:127120 Tan HO, et al., Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17536-41
All:	8 reference(s)